Linked Data
dbSNP Id:
rs763922040
ExAC:
17:41052935 G / T
gnomAD v2:
17-41052935-G-T
gnomAD v4:
17-42900918-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900918G>T , CM000679.2:g.42900918G>T | GRCh38 |
| NC_000017.10:g.41052935G>T , CM000679.1:g.41052935G>T | GRCh37 |
| NC_000017.9:g.38306461G>T | NCBI36 |
| NG_011808.1:g.5121G>T , LRG_147:g.5121G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.42G>T MANE Select | ENSP00000253801.1:p.Gln14His | |
| ENST00000253801.6:c.42G>T | ENSP00000253801.1:p.Gln14His | |
| ENST00000585489.1:c.42G>T | ENSP00000466202.1:p.Gln14His | |
| ENST00000588481.1:n.107G>T | ||
| ENST00000592383.5:c.42G>T | ENSP00000465958.1:p.Gln14His | |
| NM_000151.3:c.42G>T | NP_000142.2:p.Gln14His | |
| NM_001270397.1:c.42G>T | NP_001257326.1:p.Gln14His | |
| NM_000151.4:c.42G>T MANE Select | NP_000142.2:p.Gln14His | |
| NM_001270397.2:c.42G>T | NP_001257326.1:p.Gln14His |